Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121912884
rs121912884
1.000 0.240 12 47985575 missense variant G/A snv
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 3 1994 2010
dbSNP: rs121912882
rs121912882
0.851 0.280 12 47979534 missense variant G/A snv
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.710 1.000 4 1994 2018
dbSNP: rs1025202963
rs1025202963
1.000 0.240 12 47987655 missense variant C/T snv
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs121912866
rs121912866
1.000 0.240 12 47978698 stop gained G/A snv
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs121912869
rs121912869
1.000 0.240 12 47995904 stop gained G/A snv
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs121912873
rs121912873
1.000 0.240 12 47977627 frameshift variant A/- del
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs121912874
rs121912874
0.716 0.400 12 47978329 missense variant G/A snv
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs121912876
rs121912876
0.925 0.280 12 47994041 missense variant G/A snv
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs121912893
rs121912893
0.708 0.400 12 47983721 stop gained G/A;T snv
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1246771678
rs1246771678
1.000 0.240 12 48000055 stop gained G/A;T snv
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1555164735
rs1555164735
1.000 0.240 12 47975472 frameshift variant G/- del
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1555165204
rs1555165204
1.000 0.240 12 47977428 splice acceptor variant C/T snv
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1555166218
rs1555166218
1.000 0.240 12 47981804 frameshift variant G/-;GG delins
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1555166295
rs1555166295
1.000 0.240 12 47982105 splice donor variant A/- del
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1555166555
rs1555166555
1.000 0.240 12 47982940 stop gained G/A snv
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1555166658
rs1555166658
1.000 0.240 12 47983384 splice donor variant C/T snv
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1555168309
rs1555168309
1.000 0.240 12 47992930 splice acceptor variant C/- delins
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1555168965
rs1555168965
1.000 0.240 12 47996544 splice region variant T/- delins
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1565679039
rs1565679039
0.701 0.400 12 47983399 stop gained T/A snv
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs748459670
rs748459670
1.000 0.240 12 47978015 stop gained G/A;C snv 4.0E-06; 3.6E-05
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs794727261
rs794727261
0.716 0.400 12 47999953 stop gained G/T snv
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs794727339
rs794727339
1.000 0.240 12 47987085 missense variant C/G;T snv
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs886043356
rs886043356
1.000 0.240 12 47977118 missense variant C/T snv
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0